V65I (p.Val65Ile) variant of AGTR1 (Type-1 angiotensin II receptor)
V65I (p.Val65Ile) in AGTR1 (Type-1 angiotensin II receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Renal tubular dysgenesis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V65I (p.Val65Ile) variant details
- p.Val65Ile
- rs111980524
- ClinGen CA2657287
- ClinVar RCV000901265
- ClinVar RCV001149672
- Likely benign
- Renal tubular dysgenesis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.14
- CADD 9.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Renal tubular dysgenesis; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ASW population (allele frequency 0.029)
- Structural context available